Seroatlas · Human Serome Atlas

YARS2

Tyrosine--tRNA ligase, mitochondrial

Also known as: CGI-04, FLJ13995, mt-TyrRS, SYYM_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9Y2Z4
Gene: YARS2
Ensembl: ENSG00000139131
Chromosome: 12
Canonical length: 477 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location: Nuclear bodies,Mitochondria
Quaternary structure: Homodimer

OverviewNCBI Gene

This gene encodes a mitochondrial protein that catalyzes the attachment of tyrosine to tRNA(Tyr). Mutations in this gene are associated with myopathy with lactic acidosis and sideroblastic anemia type 2 (MLASA2). [provided by RefSeq, Jan 2011]

Canonical amino-acid sequenceUniProt

477 residues, UniProt reviewed canonical sequence.

>Q9Y2Z4|YARS2
     1  MAAPILRSFS WGRWSGTLNL SVLLPLGLRK AHSGAQGLLA AQKARGLFKD FFPETGTKIE
    61  LPELFDRGTA SFPQTIYCGF DPTADSLHVG HLLALLGLFH LQRAGHNVIA LVGGATARLG
   121  DPSGRTKERE ALETERVRAN ARALRLGLEA LAANHQQLFT DGRSWGSFTV LDNSAWYQKQ
   181  HLVDFLAAVG GHFRMGTLLS RQSVQLRLKS PEGMSLAEFF YQVLQAYDFY YLFQRYGCRV
   241  QLGGSDQLGN IMSGYEFINK LTGEDVFGIT VPLITSTTGA KLGKSAGNAV WLNRDKTSPF
   301  ELYQFFVRQP DDSVERYLKL FTFLPLPEID HIMQLHVKEP ERRGPQKRLA AEVTKLVHGR
   361  EGLDSAKRCT QALYHSSIDA LEVMSDQELK ELFKEAPFSE FFLDPGTSVL DTCRKANAIP
   421  DGPRGYRMIT EGGVSINHQQ VTNPESVLIV GQHILKNGLS LLKIGKRNFY IIKWLQL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against YARS2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.28
Highest tissue expression: 7.9 nTPM

Expression across tissuesHPA

Tissue

tongue: 7.9 nTPM
tonsil: 7.8 nTPM
salivary gland: 7.7 nTPM
lymph node: 7.6 nTPM
thymus: 7.4 nTPM
placenta: 7.3 nTPM

Single-cell type

epicardial cells: 123 nCPM
cardiomyocytes: 116 nCPM
myonuclei: 62 nCPM
migrating cytotrophoblasts: 56 nCPM
breast lactating cells: 54 nCPM
extravillous trophoblasts: 53 nCPM

Immune cell

NK-cell: 12 nTPM
naive CD8 T-cell: 11 nTPM
basophil: 10 nTPM
non-classical monocyte: 9.6 nTPM
naive B-cell: 9.5 nTPM
naive CD4 T-cell: 9 nTPM

Brain region

cerebral cortex: 13 nTPM
pons: 13 nTPM
cerebellum: 13 nTPM
white matter: 12 nTPM
basal ganglia: 12 nTPM
choroid plexus: 12 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about YARS2.

Disease | AllUniProt

Conditions YARS2 is implicated in, by any mechanism.

Myopathy with lactic acidosis and sideroblastic anemia 2 (MLASA2) MIM:613561

Disease | GeneticClinVar

37 pathogenic / likely-pathogenic of 366 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Myopathy, lactic acidosis, and sideroblastic anemia 2
Mitochondrial disease

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.26
gnomAD pLI: 0
gnomAD missense Z: 0.26
DepMap mean gene effect: -1.18
DepMap dependency class: common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

translation
tRNA aminoacylation
mitochondrial tyrosyl-tRNA aminoacylation

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

Aminoacyl-tRNA synthetase, class I, conserved site
Aminoacyl-tRNA synthetase, class Ic
Tyrosine-tRNA ligase
Rossmann-like alpha/beta/alpha sandwich fold
RNA-binding S4 domain superfamily
tRNA synthetases class I (W and Y)
Tyrosine-tRNA ligase, bacterial-type

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of YARS2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads YARS2 as an antibody target. Whether an autoantibody or antibody against YARS2 could matter depends on whether native YARS2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

YARS2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label YARS2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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